Vesicular glutamate transporter 3 (original) (raw)

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

SLC17A8
Identifiers
Aliases	SLC17A8, DFNA25, VGLUT3, solute carrier family 17 member 8
External IDs	OMIM: 607557; MGI: 3039629; HomoloGene: 13584; GeneCards: SLC17A8; OMA:SLC17A8 - orthologs
Gene location (Human)Chr.Chromosome 12 (human)[1]Band12q23.1Start100,357,074 bp[1]End100,422,055 bp[1]
Gene location (Mouse)Chr.Chromosome 10 (mouse)[2]Band10|10 C2Start89,409,882 bp[2]End89,457,115 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed intesticlegonadoocytesecondary oocyteprefrontal cortexmucosa of transverse colonrectumhypothalamusamygdalacaudate nucleusTop expressed inorgan of Cortivestibular labyrinthponsliverutriclebasal forebrainstriatum of neuraxisneural layer of retinaileumampullary crestMore reference expression dataBioGPSn/a
Gene ontologyMolecular function symporter activity L-glutamate transmembrane transporter activity neurotransmitter transmembrane transporter activity Cellular component cytoplasm axon terminus integral component of membrane multivesicular body perikaryon membrane synapse excitatory synapse basal dendrite pericellular basket synaptic vesicle membrane cell junction neuronal cell body dendrite glial limiting end-foot neuron projection cytoplasmic vesicle apical dendrite integral component of synaptic vesicle membrane Biological process cochlea development sodium ion transport ion transport hearing brain development neurotransmitter transport neural retina development L-glutamate transmembrane transport transmembrane transport synaptic transmission, glutamatergic regulation of synapse structure or activity neurotransmitter loading into synaptic vesicle Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez246213216227EnsemblENSG00000179520ENSMUSG00000019935UniProtQ8NDX2Q8BFU8RefSeq (mRNA)NM_139319NM_001145288NM_182959NM_001310710RefSeq (protein)NP_001138760NP_647480NP_001297639NP_892004Location (UCSC)Chr 12: 100.36 – 100.42 MbChr 10: 89.41 – 89.46 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Vesicular glutamate transporter 3 (VGLUT3) is a protein that in humans is encoded by the SLC17A8 gene.[5]

This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft.[5]

Clinical significance

[edit]

Mutations in this gene are the cause of autosomal-dominant nonsyndromic deafness type 25 (DFNA25).[6][7]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179520 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019935 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ a b "Entrez Gene: solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter)".
6. ^ Online Mendelian Inheritance in Man (OMIM): 605583
7. ^ Ruel J, Emery S, Nouvian R, et al. (August 2008). "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice". Am. J. Hum. Genet. 83 (2): 278–92. doi:10.1016/j.ajhg.2008.07.008. PMC 2495073. PMID 18674745.

• Greene CC, McMillan PM, Barker SE, et al. (2001). "DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24". Am. J. Hum. Genet. 68 (1): 254–60. doi:10.1086/316925. PMC 1234922. PMID 11115382.
• Fremeau RT; Voglmaier S; Seal RP; Edwards RH (2004). "VGLUTs define subsets of excitatory neurons and suggest novel roles for glutamate". Trends Neurosci. 27 (2): 98–103. doi:10.1016/j.tins.2003.11.005. PMID 15102489. S2CID 16619295.
• Seal RP; Edwards RH (2006). "The diverse roles of vesicular glutamate transporter 3". Neurotransmitter Transporters. Handbook of Experimental Pharmacology. Vol. 175. pp. 137–50. doi:10.1007/3-540-29784-7_7. ISBN 3-540-29783-9. PMID 16722234.
• Ruel J, Emery S, Nouvian R, et al. (2008). "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice". Am. J. Hum. Genet. 83 (2): 278–92. doi:10.1016/j.ajhg.2008.07.008. PMC 2495073. PMID 18674745.
• Almqvist J, Huang Y, Laaksonen A, et al. (2007). "Docking and homology modeling explain inhibition of the human vesicular glutamate transporters". Protein Sci. 16 (9): 1819–29. doi:10.1110/ps.072944707. PMC 2206968. PMID 17660252.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gong J, Jellali A, Mutterer J, et al. (2006). "Distribution of vesicular glutamate transporters in rat and human retina". Brain Res. 1082 (1): 73–85. doi:10.1016/j.brainres.2006.01.111. PMID 16516863. S2CID 2868346.
• Linke N; Bódi N; Resch BE; et al. (2008). "Developmental pattern of three vesicular glutamate transporters in the myenteric plexus of the human fetal small intestine". Histol. Histopathol. 23 (8): 979–86. PMID 18498073.
• Takamori S; Malherbe P; Broger C; Jahn R (2002). "Molecular cloning and functional characterization of human vesicular glutamate transporter 3". EMBO Rep. 3 (8): 798–803. doi:10.1093/embo-reports/kvf159. PMC 1084213. PMID 12151341.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.